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LOVD - Variant listings for SOX2

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Patient data (#0001508)
Patient ID Patient 2
Disease Bilateral anophthalmia
Reference/Submitter [21919124], United Kingdom (Great Britain):London
Template DNA
Technique SEQ
Remarks Parental DNA unavailable
# Reported 1
Population -
Gender male
Sequence Inheritance -
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype Bilateral anophthalmia, hypogonadotrophic hypogonadism, micropenis, non-progressive pituitary tumour
Unrelated  Phenotype -
Submitter Kyriaki S. Alatzoglou

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
Legacy DNA ID -
DNA change c.143_144delTCinsAA
RNA change -
Protein change p.(Phe48*)
RNA information Phe (uuc) > Ter (uaa) predicted
Protein information Premature termination of translation predicted within HMG domain. Truncated protein has impaired nuclear localisation and transcriptional control activity.
DB-ID SOX2_00071
Location ORF exon
Base number 143
5' Sequence Context ATGCCT
Original Sequence TC
Variant Sequence AA
3' Sequence Context ATGGTG
Type Insertion/Deletion
Domain HMG
Detection Method Direct Sequencing
RE Site -
Frequency -
Remarks -

1 entry in SOX2

Path. Allele
Exon Descending
Ascending
Legacy DNA ID Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
RNA information Descending
Ascending
Protein information Descending
Ascending
DB-ID Descending
Ascending
Location Descending
Ascending
Base number Descending
Ascending
5' Sequence Context Descending
Ascending
Original Sequence Descending
Ascending
Variant Sequence Descending
Ascending
3' Sequence Context Descending
Ascending
Type Descending
Ascending
Domain Descending
Ascending
Detection Method Descending
Ascending
RE Site Descending
Ascending
Frequency Descending
Ascending
Remarks Descending
Ascending
+/+ Unknown 01 - c.143_144delTCinsAA - p.(Phe48*) Phe (uuc) > Ter (uaa) predicted Premature termination of translation predicted within HMG domain. Truncated protein has impaired nuclear localisation and transcriptional control activity. SOX2_00071 ORF exon 143 ATGCCT TC AA ATGGTG Insertion/Deletion HMG Direct Sequencing - - -